New Local Medical Research Company Develops Therapy For Friedreich’s Ataxia Patients

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The Downingtown-based Friedreich’s Ataxia Research Alliance (FARA) has announced a new company, AAVLife, has been founded to rapidly develop a gene-therapy program to treat the life-threatening cardiac condition that affects FA patients.

FA is a rare inherited condition that presents in early childhood with neurological symptoms, specifically loss of balance and coordination. However, it is progressive, leads to loss of the ability to walk and affects many other organs including heart, skeletal muscle and pancreas. Currently there are no FDA-approved treatments, and the primary cause of early death in FA patients in their early twenties and thirties is a severe heart condition, cardiomyopathy.

The gene therapy program was developed by FARA-funded scientist Dr. Hélène Puccio and her colleagues. The research team demonstrated that gene-replacement therapy using an adeno-associated virus to deliver the frataxin gene prevented and corrected cardiac damage in a Friedreich’s Ataxia mouse model.

The business and research are highlighted in the current online issue of Nature Medicine. FARA said it has been collaborating closely with the founders of AAVLife since the middle of 2013 and with Dr. Puccio since FARA was first established in 1998.

Dr. Puccio, a research director at the French Institute of Health and Medical Research, has been testing this gene-therapy approach in the cardiac FA mouse model that she developed in her lab at the Institut de Génétique Moléculaire et Cellulaire. The results show that a single intravenous injection of AAVrh10 expressing frataxin is not only capable of preventing the development of heart disease in the mouse, but also fully and rapidly treats the mice with advanced stages of heart disease – returning the heart to normal function.

“When we first learned of Dr. Puccio’s results and saw that she was demonstrating prevention and correction of the cardiomyopathy at both the functional and cellular levels we were beyond excited because this gave us evidence that we could attack the cardiomyopathy, which takes an individual’s life at an early age,” said Jennifer Farmer, executive director of FARA.

“It is the dedication of wonderful researchers like Dr. Puccio that keep our hope alive,” said Mary Caruso, a founding FARA director and mother of two young women with FA.

Ron Bartek, FARA president and co-founder, said Dr. Puccio’s research was funded by public agencies in France, Europe and the United States. He said AAVLife is bringing together international expertise and resources, essential in battling a rare disease like FA.

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